his mother and his children were visited in their homes.His sister had lived in the United States of Americasince her marriage, but full clinical details were obtainedfrom her physician in that country.

Clinical featuresIII.1 R.C. Male aged 43 years. The proband had

noticed cysts on his skin since the age of 8 years, and sixhad been removed since the age of 17 years. Thesewere typical epidermoid cysts and were situated on thescalp (2), forehead, left thigh, right shin, and left ankle.At the age of 22 years he first noticed small skin

coloured nodules on the front of his chest and abdomenand these have not changed since that time (Fig. 2).Clinical examination showed 10 small (0.5-0.8 cm),bluish nodules attached to the skin, but freely moveableover the deeper tissues. They did not have a punctum(Fig. 3). There were none on his back, in his axillae,and groins or on the scrotum.He first presented at St Mark's Hospital at the age of

30 years with a 10-year history of diarrhoea and a 10-month history of rectal bleeding. A diagnosis of poly-posis coli was made on sigmoidoscopic examination andthis was confirmed after the biopsy of a rectal polyp. Abarium enema showed that the polyps extended through-

Gardner's syndrome andsteatocystoma multiplex

Two unusual genetically determinedconditions occurring in same patient

Summary. A 43-year-old man isdescribed who had Gardner's syndromeand steatocystoma multiplex. Thesetwo unusual genetically determined con-ditions were associated because he hadinherited the Gardner's syndrome fromhis father and the steatocystoma multi-plex from his mother.

Gardner's syndrome (Gardner, 1951) and steato-cystoma multiplex (Klausner, 1917) are two un-common conditions which are both inherited asautosomal dominant traits and they have notpreviously been described in the same patient.The following report of a family (Fig. 1) shows howthis occurred in the proband, because he inheritedGardner's syndrome from his father and steatocyst-oma multiplex from his mother.

Pedigree

2 4

II b bb(2345 6b7

. [EDGardner's syndromeIII u[ () Steotocystoma multiplex

IV2 3 4 5 6

FIG. 1. Pedigree.

Report of a familyAscertainment. The proband was examined at St

Mark's Hospital where he had been diagnosed as havingpolyposis coli. A clinico-genetic study on families withpolyposis coli and Gardner's syndrome was being carriedout by one of us (B.L.) to determine which type of skincyst occurred in Gardner's syndrome and whetherfamilial polyposis and Gardner's syndrome were thesame or different diseases. Members of 15 otherfamilies with Gardner's syndrome were seen and 60affected individuals were examined and none of theseshowed steatocystoma multiplex. After the probandwas seen, his father's hospital notes were reviewed and

FIG. 2. Proband (III.1). Small cysts typical of steatocystomamultiplex on patient's chest and abdomen.

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FIG. 3. Proband (III.1). Close up of cysts on chest showing thatthey are small and do not have a punctum.

out the colon. Two months later a colectomy with an

ileorectal anastomosis was carried out.Some months after his colectomy he developed some

desmoid tumours in the operation scar and two of thesehave been removed (Fig. 4). Subsequently furtherlesions have developed, and he is now thought to haveGardner's syndrome.

FIG. 4. Proband (III.1). Two desmoid tumours removed fromanterior abdominal wall.

III.2 L.M. Female aged 38 years. From the age of20 years to 26 years she had four children born bycaesarian section. At the age of 23 years she developeda desmoid tumour in her abdominal wall scar which wasremoved. Four years later she developed rectal bleedingand was found to have polyposis coli. An abdomino-perineal resection was carried out removing the rectum,sigmoid, and left side of the colon. No cysts or osteo-mas were noted at that time and recent letters to herfamily say that she has no skin cysts.

II.1 N.C. Male aged l9 years. He was first seen atanother hospital at the age of 33 years with a history ofrectal bleeding for four years. A sigmoidoscopicexamination showed a large carcinoma of the rectum,and an abdomino-perineal resection of the rectum wasperformed. There was no mention of colonic and rectalpolyps in the clinical notes or in the histology report.Eighteen years later, at the age of 51 years, he wasreferred to St Mark's Hospital with bleeding from hiscolostomy. A barium enema showed polyps of theascending colon and a total colectomy with ileostomywas performed.He died suddenly at the age of 59 years with a sub-

arachnoid haemorrhage. There was no necropsy.His wife said that he developed a lump on his left

forearm at the age of 35 years, which was removed inItaly. She was told that this was a cyst, but no reportof the histology was available. He did not have anysmall cysts on his chest, abdomen, back, axillae, orgroins.

IL7 D.C. Female aged 62 years. She has neverhad any bowel symptoms and had not noticed any cystson her skin, but clinical examination showed two smallcysts on the front of her chest, identical to those on herson's chest. When these were pointed out to her, shesaid that they had been present since the age of 17 years,but had not bothered her in any way.

IV.1 M.C. Female aged 12 years. IV.2 M.C.Male aged 8 years. Neither of these children hadbowel symptoms or cysts on the skin. Sigmoidoscopyhas not been done.

Histological findingsBowel. All three patients who had a colectomy

showed large numbers of adenomatous polyps through-out the colon.The colon from the proband, III.1, was studded with

numerous small sessile tumours, but in the sigmoid colonthere were about 20 larger pedunculated lesions (Fig. 5).Histological examination of all the lesions showed benignadenomatous polyps. Several of the polyps in his sister,III.2, showed local malignant change. At his firstoperation his father, 11.1, had an adenocarcinoma of therectum with colloid degeneration; at the second opera-tion only benign adenomatous polyps were found.

Cysts. Histological specimens were available on bothtypes of cyst in the proband. Of the six cysts on his

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and well but neither they nor their children have anybowel symptoms or skin cysts.

II.7 may be the recipient of a new mutation forsteatocystoma multiplex. Her father, I.3, who wasItalian, was killed in the first world war at the age of 32years. Her mother, I.4, who was of French extraction,died at the age of 81 years, and it is almost certain thatshe was uninvolved because II.7 looked after her formany years before her death. There was no consangu-inity in this family.The children of the proband as yet show no stigmata

of either disease, but they will have clinical and sigmoido-scopic examination at regular intervals from the age of 13years. No medical information is available on the fourchildren of III.2.The proband and his sister have inherited Gardner's

syndrome from their father, i.e. in an autosomal dominantmanner. The steatocystoma multiplex is probably alsoinherited in the same way, because both mother and sonwere affected.

DiscussionGardner's syndrome (Gardner, 1951) is usually

described as a triad of soft tissue tumours, hardtissue tumours, and polyposis coli. The syndromewas differentiated from familial polyposis in a seriesof publications about a single family by Gardner andhis co-workers from 1950 to 1969. The family wasfirst described (Kindred 109; Gardner and Stephens,1950) as polyposis coli, when a medical studentnoticed the high incidence of carcinoma of the bowelin the family. Several affected members werefound to have skin tumours, but at this stage theywere thought to be unrelated. A special clinic wasset up to investigate this family and subsequentpublications reported the results of these findings.It became apparent that the soft tissue and hardtissue tumours that occurred were only present inpatients who also had the polyposis (Gardner andRichards, 1953) and this triad then became known asGardner's syndrome. Later, desmoid tumours andabnormalities of the teeth were added as associatedfindings (Gardner, 1962). From the pedigreeshown it was seen to be inherited as an autosomaldominant trait (Gardner, 1951).The skin cysts which occur in Gardner's syn-

drome are epidermoid cysts (Leppard, 1974).These may be solitary or multiple, can occur any-where on the body surface, but most commonly onthe legs and face. They often appear first in child-hood. They are usually described as beingnumerous (Cramer, 1962; Fader et al, 1962) andlarge and disfiguring (Weary et al, 1964; Thomaset al, 1968; Alm et al, 1973). This usually meansthat they are situated on the head and neck and are,therefore, obvious on clinical examination, but thisis not always the case. Thirty per cent of Leppard

W'<,,>^>...e'<v~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~..W:SA

A r

FIG. 5. Proband (III.1). The sigmoid colon showed many smallsessile polyps and several larger pedunculated tumours.

head and limbs, only the one on his left thigh was sent

for histological examination. After being stained withhaematoxylin and eosin this showed a typical epidermoidcyst (Fig. 6). The lining of the cyst was composed ofnormal epidermis with a basal layer, three to four pricklecell layers and a pronounced granular layer. The con-

tent of the cyst was flaky, basophilic staining keratin.Two cysts were removed from his chest. Each showed

a thin-walled cyst with a wavy lining and sebaceousglands opening into the wall (Fig. 7). The changes were

those of steatocystoma multiplex.

Wal

.. . tO..*e . .. X:. M4 \

mHs toor gs i nc e a i atind a tl agestre o fv andm 78fHee five shefibs; tw oecip i nof ie ine oo

of influenza and tuberculosis. The other three are alive

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FIG. 7. Histological features. Wall of cyst removed from chest of proband showing typical wavylining of steatocystoma multiplex and a sebaceous gland within the wall of the cyst. (H + E x 90.)

and Bussey's patients (1975) had solitary cysts andthe average number per patient was only four.They were only large and disfiguring in one of their39 patients.There has always been some confusion about the

cysts in Gardner's syndrome. They have beencalled a variety of names such as epidermoid in-clusion cysts (Coli et al, 1970), epithelial cysts(Stritzler, 1963), sebaceous cysts (Marshall, Martin,and Mackay, 1967), and sebocystomatosis or steato-cystoma multiplex (Oldfield, 1954; Gorlin andChaudhry, 1960). In some instances the termssebaceous cysts and epithelial inclusion cysts areused alternately as if they were the same condition(Kenny and O'Neill, 1958; Fader et al, 1962;Thomas et al, 1968) and in others, patients weresaid to have both types of cyst (Gardner, 1956;Pastinszky, Ver, and Bernat, 1969). Where thehistological features of the lesion were described itwas almost always that of an epidermoid cyst(Gardner and Richards, 1953; Kenny and O'Neill,1958; Staley, 1961; Gardner, 1962; Weary et al,1964; Dunning and Ibrahim, 1965), and the reportby Leppard and Bussey (1975) confirmed that thiswas the only type of cyst that occurred in Gardner'ssyndrome.

Steatocystoma multiplex is often used to describeany patient with multiple 'sebaceous cysts'. Indi-vidual patients and families with this condition aredescribed in the published reports as having largenumbers of disfiguring cysts (Oldfield, 1954) and as

having cysts widely scattered on the trunk, scrotum,and extremities (Weary et al, 1964; Rosten, 1972).

Steatocystoma multiplex produces a distinctclinical and histological picture. The lesions aresmall, skin coloured, or yellow or bluish noduleswhich are situated symmetrically on the chest, back,axillae, and groins (Pringle, 1899; Anderson, 1950).They are usually described as being smaller than alarge pea. They appear in late adolescence or inearly adult life and then remain static for the rest ofthe individual's life. They are thought to be a formof hamartoma (Kligman and Kirschbaum, 1964).The cysts are lined by wavy, crenulated epitheliumwith an ultra-thin horny layer, and various adnexalstructures can be found within the wall of the cystor discharging their secretions into it. The mostfrequently occurring appendage is the sebaceousgland, but hair follicles and eccrine sweat ducts mayalso be seen.

This condition is also said to be inherited as anautosomal dominant trait and can thus be expectedto affect approximately half of the children of anaffected person in each generation.The patient described here (III.I) showed both of

these rare conditions. Gardner's syndrome, evi-denced by adenomatous polyps of the colon,multiple epidermoid cysts on the head and limbs,and desmoid tumours of the anterior abdominalwall, was inherited from his father. The steato-cystoma multiplex, with very few though typicalcysts on his chest and abdomen, was inherited from

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his mother. Though his children show neither ofthese conditions at present, they will be kept underobservation to see if either or both disorders developin the future.

BARBARA LEPPARD* and H. R. THOMPSON

From St. Mark's Hospital,City Road, London

* Present address and address for reprints: St John's Hospital forDiseases of the Skin, Lisle Street, Leicester Square, London,WC2H 7BJ.

REFERENCES

Alm, T., Dencker, H., Lunderquist, A., Mark, J., Mitelman, F.,Norryd, C., and Tranberg, K-G. (1973). Gardner's syndrome.Acta Chirurgica Scandinavica, 139, 660-665.

Anderson, D. S. (1950). Sebocystomatosis. British journal ofDerm2tology, 62, 215-221.

Coli, R. D., Moore, J. P., La Marche, P. H., De Luca, F. G., andThayer, W. R. (1970). Gardner's syndrome. A revisit to a

previously described family. American journal of DigestiveDiseases, 15, 551-568.

Cramer, L. M. (1962). Gardner's syndrome. Plastic and Recon-structive Surgery, 29, 402-407.

Dunning, E. J. and Ibrahim, K. S. (1965). Gardner's syndrome.Report of a case. Annals of Surgery, 161, 565-568.

Fader, M., Kline, S. N., Spatz, S. S., and Zubrow, H. J. (1962).Gardner's syndrome (intestinal polyposis, osteomas, sebaceouscysts) and a new dental discovery. Oral Surgery, Oral Medicineand Oral Pathology, 15, 153-172.

Gardner, E. J. (1951). A genetic and clinical study of intestinalpolyposis, a predisposing factor for carcinoma of the colon andrectum. American journal of Human Genetics, 3, 167-176.

Gardner, E. J. (1956). Mendelian pattern of dominant inheritancefor a syndrome including intestinal polyposis, oesteomas, fibromasand sebaceous cysts in a human family group. In Novant 'AnniDelle Leggi Mendeliane, pp. 321-329. Ed. by L. Gedda. InstitutoG. Mendel, Rome.

Gardner, E. J. (1962). Follow up study of a family group exhibitingdominant inheritance for a syndrome including intestinal polyps,osteomas, fibromas and epidermal cysts. American Journal ofHuman Genetics, 14, 376-390.

Gardner, E. J. and Richards, R. C. (1953). Multiple cutaneous andsubcutaneous lesions occurring simultaneously with hereditarypolyposis and osteomatosis. American Journal of Human Genetics5, 139-147.

Gardner, E. J. and Stephens, F. E. (1950). Cancer of the lowerdigestive tract in one family group. American Journal of HumanGenetics, 2, 41-48.

Gorlin, R. J. and Chaudhry, A. P. (1960). Multiple osteomatosis,fibromas, lipomas and fibrosarcomas of the skin and mesentery,epidermoid inclusion cysts of the skin, leiomyomas and multipleintestinal polyposis. New England journal of Medicine, 263,1151-1158.

Kenny, P. J. and O'Neill, J. (1958). Familial intestinal polyposisassociated with further abnormalities of growth. Australian andNew Zealand Journal of Surgery, 28, 145-150.

Klausner, E. (1917). Uber angeborene bzw. hereditare Zystenbil-dung im Bereiche der Talgdrusen. Dermatologische Wochenschrift,65, 711-716.

Kligman, A. M. and Kirschbaum, J. D. (1964). Steatocystomamultiplex: a dermoid tumour. Journal of Investigative Derma-tology, 42, 383-387.

Leppard, B. J. (1974). Epidermoid cysts and polyposis coli.Proceedings of the Royal Society of Medicine, 67, 1036-1037.

Leppard, B. J. and Bussey, H. J. R. (1975). Epidermoid cysts,polyposis coli and Gardner's syndrome. British J'ournal ofSurgery, 62, 387-393.

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Marshall, W. H., Martin, F. I. R., and Mackay, I. R. (1967).Gardner's syndrome with adrenal carcinoma. AustralasianAnnals of Medicine, 16, 242-244.

Oldfield, M. C. (1954). The association of familial polyposis of thecolon with multiple sebaceous cysts. British Journal of Surgery,41, 534-541.

Pastinszky, I., Ver, P., and Bernit, I. (1969). Gardner's syndromeActa Medica Academiae Scientiarum Hungaricae, 26, 157-177.

Pringle, J. J. (1899). A case of peculiar multiple sebaceous cysts(steatocystoma multiplex). British J7ournal of Dermatology, 11,381-388.

Rosten, M. (1972). Gardner's syndrome. Report of a case.Australian Journal of Dermatology, 13, 124.

Staley, C. J. (1961). Gardner's syndrome. Archives of Surgery,82, 420-422.

Stritzler, C. (1963). Gardner's syndrome: familial polyposis of thelarge bowel with adenocarcinoma; multiple osteomas of skull andlong bones; and multiple soft tissue tumours of the skin. Archivesof Dermatology, 87, 778-779.

Thomas, K. E., Watne, A. L., Johnson, J. G., Roth, E., and Zimmer-mann, B. (1968). Natural history of Gardner's syndrome.American Journal of Surgery, 115, 218-226.

Weary, P. E., Linthicum, A., Cawley, E. P., Coleman, C. C., Jr., andGraham, G. F. (1964). Gardner's syndrome. Archives ofDermatology, 90, 20-30.

A giant short arm of no. 21chromosome in mother of 21/21

translocation mongol

Summary. An extreme variation ofthe short arm of no. 21 chromosome inthe mother of a 21/21 translocationmongol is described. The possiblerelation between the very long short armof chromosome no. 21 in the mother anda centric fusion type of translocationmongolism in the offspring is discussed.

We recently encountered an interesting familywhere the mother had an abnormal no. 21 chromo-some and the child had a centric fusion type oftranslocation Down's syndrome.

Case reportThe patient was a 10-year-old boy with the typical

features of Down's syndrome. The mother was 20 andthe father was 25 years old at the time of his birth. Themother's phenotype was entirely normal.

Chromosome studiesThe patient's chromosome analysis showed that he

had 46 chromosomes with 21/21 centric fusion typetranslocation (or isochromosome of no. 21 chromosome).This cytogenetic finding was confirmed by trypsinbanding technique (Fig. 1).The father's karyotype was normal. The pheno-

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